2022
Glucocerebrosidase Activity Is Not Associated with Parkinson's Disease Risk or Severity
Omer N, Giladi N, Gurevich T, Bar‐Shira A, Gana‐Weisz M, Glinka T, Goldstein O, Kestenbaum M, Cedarbaum J, Mabrouk O, Fraser K, Shirvan J, Orr‐Urtreger A, Mirelman A, Thaler A. Glucocerebrosidase Activity Is Not Associated with Parkinson's Disease Risk or Severity. Movement Disorders 2022, 37: 651-652. PMID: 35064687, DOI: 10.1002/mds.28929.Peer-Reviewed Original Research
2021
Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity
Omer N, Giladi N, Gurevich T, Bar‐Shira A, Gana‐Weisz M, Glinka T, Goldstein O, Kestenbaum M, Cedarbaum J, Mabrouk O, Fraser K, Shirvan J, Orr‐Urtreger A, Mirelman A, Thaler A. Glucocerebrosidase Activity is not Associated with Parkinson's Disease Risk or Severity. Movement Disorders 2021, 37: 190-195. PMID: 34550621, PMCID: PMC9292990, DOI: 10.1002/mds.28792.Peer-Reviewed Original ResearchMeSH KeywordsGlucosylceramidaseHeterozygoteHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MutationParkinson DiseaseConceptsNon-manifesting carriersProdromal Parkinson's diseaseParkinson's diseaseGCase activityClinical phenotypeLower GCase activityCarriers of mutationsLysosomal enzyme glucocerebrosidaseGBA-NMCGBA-PDPD patientsRisk factorsGBA mutationsPD phenotypeG2019S LRRK2GBA geneEnzyme glucocerebrosidaseLRRK2 genePerformance-based measuresAshkenazi JewsDiseaseGroups of participantsPhenotypeMutationsParticipantsQuantitative digital clock drawing test as a sensitive tool to detect subtle cognitive impairments in early stage Parkinson's disease
Schejter-Margalit T, Kizony R, Shirvan J, Cedarbaum J, Bregman N, Thaler A, Giladi N, Mirelman A. Quantitative digital clock drawing test as a sensitive tool to detect subtle cognitive impairments in early stage Parkinson's disease. Parkinsonism & Related Disorders 2021, 90: 84-89. PMID: 34416663, DOI: 10.1016/j.parkreldis.2021.08.002.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overCase-Control StudiesCognitionCognitive DysfunctionFemaleGenotypeGlucosylceramidaseHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMental Status and Dementia TestsMiddle AgedMutationNeuropsychological TestsParkinson DiseaseReproducibility of ResultsROC CurveSensitivity and SpecificityConceptsColor Trails TestSubtle cognitive declineClock Drawing TestCognitive AssessmentCognitive profileCognitive declineCognitive testsDigital clock drawing testStandardized neuropsychological testsDrawing TestDigital cognitive assessmentSubtle cognitive impairmentCurrent standardized testsClock-drawing testEarly cognitive declineMontreal Cognitive AssessmentTrails TestNeuropsychological testsSubtle impairmentsHealthy controlsMutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Shirvan J, Cedarbaum J, Orr-Urtreger A, Regev K, Shenhar-Tsarfaty S, Mirelman A. Mutations in GBA and LRRK2 Are Not Associated with Increased Inflammatory Markers. Journal Of Parkinson's Disease 2021, 11: 1285-1296. PMID: 33998549, PMCID: PMC8461659, DOI: 10.3233/jpd-212624.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersCytokinesGlucosylceramidaseHumansInflammationLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MutationParkinson DiseaseConceptsNon-manifesting carriersRole of inflammationGBA-PDParkinson's diseaseGenetic Parkinson's diseaseLRRK2-PDPD patientsCerebrospinal fluidNon-manifesting mutation carriersAnti-inflammatory treatmentProdromal Parkinson's diseaseGeneral medical conditionsIdiopathic Parkinson's diseaseLRRK2-PD patientsCSF cytokinesGBA-NMCLRRK2-NMCPeripheral cytokinesInflammatory markersIL-10Inflammatory measuresDisease characteristicsIL-1βIL-6Peripheral bloodBiochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease
Thaler A, Omer N, Giladi N, Gurevich T, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum J, Orr-Urtreger A, Shenhar-Tsarfaty S, Mirelman A. Biochemical markers for severity and risk in GBA and LRRK2 Parkinson’s disease. Journal Of Neurology 2021, 268: 1517-1525. PMID: 33388928, DOI: 10.1007/s00415-020-10325-4.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersGlucosylceramidaseHeterozygoteHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MutationParkinson DiseaseConceptsNon-manifesting carriersProdromal Parkinson's diseaseWhite blood countParkinson's diseaseMicroalbumin/creatinine ratioNeutrophil/lymphocyte ratioGBA-PD patientsWorse motor performanceGlomerular filtration rateLRRK2 mutation carriersC-reactive proteinIdiopathic Parkinson's diseaseGBA-NMCGBA-PDLRRK2-NMCCreatinine ratioLRRK2-PDLymphocyte ratioVitamin DBlood countFiltration rateIdiopathic PDMutation carriersPD severityBiochemical markers
2020
Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease
Thaler A, Shenhar-Tsarfaty S, Shaked Y, Gurevich T, Omer N, Bar-Shira A, Gana-Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr-Urtreger A, Giladi N, Mirelman A. Metabolic syndrome does not influence the phenotype of LRRK2 and GBA related Parkinson’s disease. Scientific Reports 2020, 10: 9329. PMID: 32518334, PMCID: PMC7283235, DOI: 10.1038/s41598-020-66319-9.Peer-Reviewed Original ResearchConceptsMetabolic syndromeParkinson's diseaseLRRK2-NMCLRRK2-PDComponents of MSGBA-Parkinson diseaseMetabolic componentsProdromal Parkinson's diseaseHigh triglyceride levelsIdiopathic Parkinson's diseaseGBA-NMCGBA-PDElevated triglyceridesBlood pressureLRRK2 carriersProdromal featuresTriglyceride levelsPD groupDiseaseDisease statesLaboratory test resultsPrediabetesSyndromeHigh rateTriglyceridesA Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease
Omer N, Giladi N, Gurevich T, Bar‐Shira A, Gana‐Weisz M, Goldstein O, Kestenbaum M, Cedarbaum JM, Orr‐Urtreger A, Mirelman A, Thaler A. A Possible Modifying Effect of the G2019S Mutation in the LRRK2 Gene on GBA Parkinson's Disease. Movement Disorders 2020, 35: 1249-1253. PMID: 32353202, DOI: 10.1002/mds.28066.Peer-Reviewed Original ResearchMeSH KeywordsGenotypeGlucosylceramidaseHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MutationParkinson DiseaseConceptsGBA-PDLRRK2-PDIdiopathic Parkinson's diseaseDisease Rating ScaleParkinson's diseaseTotal Unified Parkinson's Disease Rating ScaleUnified Parkinson's Disease Rating ScaleParkinson's Disease Rating ScaleG2019S LRRK2 mutationBetter olfactionClinical symptomsPatientsGBA genePhenotypic presentationRating ScalePerformance-based measuresPhenotypic expressionDiseaseLower scoresPresentationMutationsSymptoms
2019
Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk?
Goldstein O, Gana-Weisz M, Cohen-Avinoam D, Shiner T, Thaler A, Cedarbaum JM, John S, Lalioti M, Gurevich T, Bar-Shira A, Mirelman A, Giladi N, Orr-Urtreger A. Revisiting the non-Gaucher-GBA-E326K carrier state: Is it sufficient to increase Parkinson's disease risk? Molecular Genetics And Metabolism 2019, 128: 470-475. PMID: 31662221, DOI: 10.1016/j.ymgme.2019.10.001.Peer-Reviewed Original ResearchConceptsPD patientsE326KGBA variantsLRRK2 G2019SDisease riskDisease worldElderly healthy individualsAdditive effectParkinson's disease riskK variantAshkenazi PD patientsCommon genetic risk factorGenetic risk factorsRisk factorsCarrier patientsGBA mutationsPD riskHealthy individualsPatientsCarrier stateGaucher diseaseEarlier AAOAshkenazi originAshkenazi controlsStatistical significance
2018
Targeted Therapies for Parkinson's Disease: From Genetics to the Clinic
Sardi SP, Cedarbaum JM, Brundin P. Targeted Therapies for Parkinson's Disease: From Genetics to the Clinic. Movement Disorders 2018, 33: 684-696. PMID: 29704272, PMCID: PMC6282975, DOI: 10.1002/mds.27414.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-SynucleinAnimalsClinical Trials as TopicGlucosylceramidaseHumansParkinson DiseaseProtein Serine-Threonine KinasesConceptsParkinson's diseaseGreat unmet medical needDisease-modifying treatmentsNew therapeutic approachesUnmet medical needClinical stageClinical trialsRelentless progressionTherapeutic approachesPotential therapyClinical developmentTherapeutic paradigmMedical needDiseaseGenetic variantsPD geneticsNew arsenalTreatmentGenetic discoveriesKey outstanding questionsTherapySymptomsPathologyProgressionTrials